MCID: FMR013
MIFTS: 18

Femoral Agenesis/hypoplasia

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Femoral Agenesis/hypoplasia

MalaCards integrated aliases for Femoral Agenesis/hypoplasia:

Name: Femoral Agenesis/hypoplasia 60
Femoral Intercalary Meromelia 60
Congenital Short Femur 60

Classifications:



External Ids:

ICD10 via Orphanet 35 Q72.4
UMLS via Orphanet 75 C0345375
Orphanet 60 ORPHA1987

Summaries for Femoral Agenesis/hypoplasia

MalaCards based summary : Femoral Agenesis/hypoplasia, also known as femoral intercalary meromelia, is related to congenital femoral deficiency and arthritis. An important gene associated with Femoral Agenesis/hypoplasia is PLOD2 (Procollagen-Lysine,2-Oxoglutarate 5-Dioxygenase 2). Affiliated tissues include bone, and related phenotypes are Increased cilium length after serum starvation and Increased cilium length after serum starvation

Related Diseases for Femoral Agenesis/hypoplasia

Diseases related to Femoral Agenesis/hypoplasia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 congenital femoral deficiency 11.6
2 arthritis 9.9
3 methylmalonic acidemia 9.9
4 fibular hemimelia 9.9
5 hip subluxation 9.9
6 parkes weber syndrome 9.9
7 weber syndrome 9.9

Graphical network of the top 20 diseases related to Femoral Agenesis/hypoplasia:



Diseases related to Femoral Agenesis/hypoplasia

Symptoms & Phenotypes for Femoral Agenesis/hypoplasia

GenomeRNAi Phenotypes related to Femoral Agenesis/hypoplasia according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased cilium length after serum starvation GR00149-A-1 9.23 INPP5E TNFRSF13B
2 Increased cilium length after serum starvation GR00149-A-2 9.23 INPP5E TNFRSF13B

Drugs & Therapeutics for Femoral Agenesis/hypoplasia

Search Clinical Trials , NIH Clinical Center for Femoral Agenesis/hypoplasia

Genetic Tests for Femoral Agenesis/hypoplasia

Anatomical Context for Femoral Agenesis/hypoplasia

MalaCards organs/tissues related to Femoral Agenesis/hypoplasia:

42
Bone

Publications for Femoral Agenesis/hypoplasia

Articles related to Femoral Agenesis/hypoplasia:

(show all 23)
# Title Authors Year
1
Multiple Ligament Reconstruction for Absent Cruciate and a Congenital Short Femur Case Report and Review of the Literature. ( 28583062 )
2017
2
Simultaneous femoral and tibial lengthening in combined congenital complete fibular hemimelia and congenital short femur using Ilizarov ring external fixator. ( 25561754 )
2014
3
Hip dislocation during lengthening of congenital short femur. ( 22186706 )
2012
4
Congenital short femur. ( 22485245 )
2012
5
Parkes-Weber syndrome associated with a congenital short femur of the affected limb. ( 18835518 )
2009
6
Hip and knee dislocation during femoral lengthening in congenital short femur: a rare case report. ( 18600335 )
2009
7
Lengthening of the congenital short femur using the Ilizarov technique: a single-surgeon series. ( 19567864 )
2009
8
Knee arthritis in congenital short femur after Wagner lengthening. ( 16801863 )
2006
9
Quadricepsplasty for knee stiffness after femoral lengthening in congenital short femur. ( 12678364 )
2003
10
Factors leading to hip subluxation and dislocation in femoral lengthening of unilateral congenital short femur. ( 11371820 )
2001
11
Knee in congenital short femur. ( 7670984 )
1995
12
Lengthening for congenital short femur. Results of different methods. ( 1670446 )
1991
13
Unilateral congenital short femur: a case report. ( 2179940 )
1990
14
Lengthening in the congenital short femur. ( 2293918 )
1990
15
Pediatric update #4. Familial congenital short femur: intrauterine detection and follow-up by ultrasound. A case report. ( 3050811 )
1988
16
Monozygotic twins concordant for congenital short femur. ( 3746840 )
1986
17
Congenital short femur: prenatal sonographic diagnosis. ( 3892036 )
1985
18
Missing cruciate ligament in congenital short femur. ( 6630254 )
1983
19
Methylmalonic aciduria in a black female child with congenital short femur on the right side. ( 6790839 )
1981
20
Congenital short femur. Clinical, genetic and epidemiological comparison of the naturally occurring condition with that caused by thalidomide. ( 7410462 )
1980
21
Van Nes rotational osteotomy for treatment of proximal femoral focal deficiency and congenital short femur. ( 1201985 )
1975
22
Congenital short femur. ( 5850353 )
1965
23
Congenital short femur; simple femoral hypoplasia. ( 13620709 )
1959

Variations for Femoral Agenesis/hypoplasia

ClinVar genetic disease variations for Femoral Agenesis/hypoplasia:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 INPP5E NM_019892.4(INPP5E): c.1132C> T (p.Arg378Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121918130 GRCh37 Chromosome 9, 139327634: 139327634
2 INPP5E NM_019892.4(INPP5E): c.1132C> T (p.Arg378Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121918130 GRCh38 Chromosome 9, 136433182: 136433182
3 TNFRSF13B NM_012452.2(TNFRSF13B): c.310T> C (p.Cys104Arg) single nucleotide variant risk factor rs34557412 GRCh37 Chromosome 17, 16852187: 16852187
4 TNFRSF13B NM_012452.2(TNFRSF13B): c.310T> C (p.Cys104Arg) single nucleotide variant risk factor rs34557412 GRCh38 Chromosome 17, 16948873: 16948873
5 VANGL1 NM_138959.2(VANGL1): c.523C> T (p.Arg175Trp) single nucleotide variant Uncertain significance rs142594314 GRCh37 Chromosome 1, 116206600: 116206600
6 VANGL1 NM_138959.2(VANGL1): c.523C> T (p.Arg175Trp) single nucleotide variant Uncertain significance rs142594314 GRCh38 Chromosome 1, 115663979: 115663979
7 PLOD2 NM_182943.2(PLOD2): c.2038C> T (p.Arg680Ter) single nucleotide variant Pathogenic/Likely pathogenic rs780770356 GRCh37 Chromosome 3, 145788912: 145788912
8 PLOD2 NM_182943.2(PLOD2): c.2038C> T (p.Arg680Ter) single nucleotide variant Pathogenic/Likely pathogenic rs780770356 GRCh38 Chromosome 3, 146071125: 146071125
9 PLOD2 NM_182943.2(PLOD2): c.1361G> T (p.Gly454Val) single nucleotide variant Likely pathogenic rs778360818 GRCh38 Chromosome 3, 146079255: 146079255
10 PLOD2 NM_182943.2(PLOD2): c.1361G> T (p.Gly454Val) single nucleotide variant Likely pathogenic rs778360818 GRCh37 Chromosome 3, 145797042: 145797042

Expression for Femoral Agenesis/hypoplasia

Search GEO for disease gene expression data for Femoral Agenesis/hypoplasia.

Pathways for Femoral Agenesis/hypoplasia

GO Terms for Femoral Agenesis/hypoplasia

Sources for Femoral Agenesis/hypoplasia

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70 SNOMED-CT via HPO
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72 TGDB
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74 UMLS
75 UMLS via Orphanet
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